Patient reported impact of symptoms in amyotrophic lateral sclerosis (PRISM-ALS): A national, cross-sectional study

Christine Zizzi; Jamison Seabury; Spencer Rosero; Danae Alexandrou; Ellen Wagner; Jennifer S Weinstein; Anika Varma; Nuran Dilek; John Heatwole; Joanne Wuu; James Caress; Richard Bedlack; Volkan Granit; Jeffrey M Statland; Paul Mehta; Michael Benatar; Chad Heatwole

doi:10.1016/j.eclinm.2022.101768

Patient reported impact of symptoms in amyotrophic lateral sclerosis (PRISM-ALS): A national, cross-sectional study

EClinicalMedicine. 2022 Dec 13:55:101768. doi: 10.1016/j.eclinm.2022.101768. eCollection 2023 Jan.

Authors

Christine Zizzi^{1

2}, Jamison Seabury¹, Spencer Rosero¹, Danae Alexandrou¹, Ellen Wagner¹, Jennifer S Weinstein¹, Anika Varma¹, Nuran Dilek², John Heatwole³, Joanne Wuu⁴, James Caress⁵, Richard Bedlack⁶, Volkan Granit⁴, Jeffrey M Statland⁷, Paul Mehta⁸, Michael Benatar⁴, Chad Heatwole^{1

2}

Affiliations

¹ Center for Health + Technology, 265 Crittenden Blvd, CU 420694, Rochester, NY, 14642, USA.
² University of Rochester, Department of Neurology, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA.
³ Sutherland High School, Pittsford, NY, USA.
⁴ University of Miami Miller School of Medicine, Department of Neurology, 1120 NW 14th Street, Suite 1300, Miami, FL, 33136, USA.
⁵ Wake Forest Baptist Health, Medical Center Blvd, Winston-Salem, NC, 27157, USA.
⁶ Duke University School of Medicine, Department of Neurology, 311 Research Dr, Durham, NC, 27710, USA.
⁷ University of Kansas Medical Center, Department of Neurology, 3901 Rainbow Blvd, Kansas City, KS, 66160, USA.
⁸ Centers for Disease Control and Prevention/Agency for Toxic Substances and Disease Registry, National ALS Registry, 4770 Buford Highway NE, Atlanta, GA, 30341, USA.

Abstract

Background: As novel therapeutic interventions are being developed and tested in the amyotrophic lateral sclerosis (ALS) population, there is a need to better understand the symptoms and issues that have the greatest impact on the lives of individuals with ALS. We aimed to determine the frequency and relative importance of symptoms experienced by adults in a national ALS sample and to identify factors that are associated with the greatest disease burden in this population.

Methods: We conducted 15 qualitative interviews of individuals with varied ALS phenotypes and analyzed 732 quotes regarding the symptomatic disease burden of ALS between August 2018 and March 2019. We subsequently conducted a national, cross-sectional study of 497 participants with ALS and ALS variants through the Centers for Disease Control and Prevention's (CDC) National ALS Registry between July 2019 and December 2019. Participants reported on the prevalence and relative importance of 189 symptomatic questions representing 17 symptomatic themes that were previously identified through qualitative interviews. Analysis was performed to determine how age, sex, education, employment, time since onset of symptoms, location of symptom onset, feeding tube status, breathing status and speech status relate to symptom and symptomatic theme prevalence.

Findings: Symptomatic themes with the highest prevalence in our sample were an inability to do activities (93.8%), fatigue (92.6%), problems with hands or fingers (87.7%), limitations with mobility or walking (86.7%), and a decreased performance in social situations (85.7%). Participants identified inability to do activities and limitations with mobility or walking as having the greatest overall effect on their lives.

Interpretation: Individuals with ALS experience a variety of symptoms that affect their lives. The prevalence and importance of these symptoms differ among the ALS population. The most prevalent and important symptoms offer potential targets for improvements in future therapeutic interventions.

Funding: Research funding was provided by ALS Association.

Keywords: Amyotrophic lateral sclerosis; Disease burden; Motor neuron disease; PRISM; Patient-reported outcomes.

Grants and funding

U54 NS092091/NS/NINDS NIH HHS/United States